Linked Data
ClinVar Variation Id:
1268903
ClinVar RCV Id:
RCV001680008
dbSNP Id:
rs11569126
gnomAD v2:
4-110929653-G-A
gnomAD v3:
4-110008497-G-A
gnomAD v4:
4-110008497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110008497G>A , CM000666.2:g.110008497G>A | GRCh38 |
| NC_000004.11:g.110929653G>A , CM000666.1:g.110929653G>A | GRCh37 |
| NC_000004.10:g.111149102G>A | NCBI36 |
| NG_011441.1:g.100614G>A | |
| NG_011441.2:g.100614G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265171.10:c.3370+267G>A MANE Select | ENSP00000265171.5:n.3370+267G>A | |
| ENST00000652245.1:c.2923-2705G>A | ENSP00000498337.1:n.2923-2705G>A | |
| ENST00000265171.9:c.3370+267G>A | ENSP00000265171.5:n.3370+267G>A | |
| ENST00000503392.1:c.3247+267G>A | ENSP00000421384.1:n.3247+267G>A | |
| ENST00000509793.5:c.3244+267G>A | ENSP00000424316.1:n.3244+267G>A | |
| ENST00000509996.1:n.977-2705G>A | ||
| ENST00000537316.5:n.201+267G>A | ||
| ENST00000540840.1:n.123-2705G>A | ||
| ENST00000544918.1:n.377-2705G>A | ||
| NM_001178130.1:c.3247+267G>A | NP_001171601.1:n.3247+267G>A | |
| NM_001178131.1:c.3244+267G>A | NP_001171602.1:n.3244+267G>A | |
| NM_001963.4:c.3370+267G>A | NP_001954.2:n.3370+267G>A | |
| XM_005262796.2:c.3394+243G>A | XP_005262853.1:n.3394+243G>A | |
| XM_005262797.2:c.3268+243G>A | XP_005262854.1:n.3268+243G>A | |
| XM_005262798.2:c.3151+243G>A | XP_005262855.1:n.3151+243G>A | |
| XM_005262800.2:c.3049-2705G>A | XP_005262857.1:n.3049-2705G>A | |
| XM_005262801.2:c.2492-2705G>A | XP_005262858.1:n.2492-2705G>A | |
| XM_006714124.2:c.3292-2705G>A | XP_006714187.1:n.3292-2705G>A | |
| XM_011531707.1:c.3283+243G>A | XP_011530009.1:n.3283+243G>A | |
| XR_427532.2:n.3306-2705G>A | ||
| NM_001178130.2:c.3247+267G>A | NP_001171601.1:n.3247+267G>A | |
| NM_001178131.2:c.3244+267G>A | NP_001171602.1:n.3244+267G>A | |
| NM_001357021.1:c.2923-2705G>A | NP_001343950.1:n.2923-2705G>A | |
| NM_001963.5:c.3370+267G>A | NP_001954.2:n.3370+267G>A | |
| XM_017007845.1:c.3418+243G>A | XP_016863334.1:n.3418+243G>A | |
| XM_017007846.1:c.3394+267G>A | XP_016863335.1:n.3394+267G>A | |
| XM_017007847.1:c.3295+243G>A | XP_016863336.1:n.3295+243G>A | |
| XM_017007848.1:c.3292+243G>A | XP_016863337.1:n.3292+243G>A | |
| XM_017007849.1:c.3175+243G>A | XP_016863338.1:n.3175+243G>A | |
| XM_017007850.1:c.3316-2705G>A | XP_016863339.1:n.3316-2705G>A | |
| XM_017007851.1:c.3073-2705G>A | XP_016863340.1:n.3073-2705G>A | |
| XR_001741157.1:n.3330-2705G>A | ||
| NM_001178130.3:c.3247+267G>A | NP_001171601.1:n.3247+267G>A | |
| NM_001178131.3:c.3244+267G>A | NP_001171602.1:n.3244+267G>A | |
| NM_001357021.2:c.2923-2705G>A | NP_001343950.1:n.2923-2705G>A | |
| NM_001963.6:c.3370+267G>A MANE Select | NP_001954.2:n.3370+267G>A |